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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CYP2D6 Gene

protein-coding   GIFtS: 73
GCID: GC22M042522

Cytochrome P450, Family 2, Subfamily D, Polypeptide 6

(Previous names: cytochrome P450, subfamily IID (debrisoquine, sparteine,...)
(Previous symbols: CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP)
Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Cytochrome P450, Family 2, Subfamily D, Polypeptide 61 2     CYPIID62 3
CYP2DL11 2 3     EC 1.14.14.13 8
CYP2D7AP1 2     CPD62 5
CYP2D7BP1 2     P450DB12 5
CYP2D7P21 2     CYP2D2
CYP2D8P21 2     P450-DB12
Cytochrome P450, Family 2, Subfamily D, Polypeptide 7 Pseudogene 21 2     P450C2D2
Cytochrome P450, Family 2, Subfamily D, Polypeptide 8 Pseudogene 21 2     Cytochrome P450 2D62
Cytochrome P450, Subfamily II (Debrisoquine, Sparteine, Etc.,
-Metabolising), Polypeptide 7 Pseudogene 21 2
     Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc.,
-Metabolizing)-Like 12
Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc.,
-Metabolising), Polypeptide 8 Pseudogene 21 2
     Flavoprotein-Linked Monooxygenase2
Cytochrome P450, Subfamily IID (Debrisoquine, Sparteine, Etc.,
-Metabolizing), Polypeptide 61 2
     Microsomal Monooxygenase2
Cytochrome P450-DB12 3     Xenobiotic Monooxygenase2
Debrisoquine 4-Hydroxylase2 3     

External Ids:    HGNC: 26251   Entrez Gene: 15652   Ensembl: ENSG000001001977   OMIM: 1240305   UniProtKB: P106353   

Export aliases for CYP2D6 gene to outside databases

Previous GC identifers: GC22U990011 GC22M039139 GC22M040766 GC22M040768 GC22M040769 GC22M040848 GC22M040849 GC22M040852 GC22M025488


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for CYP2D6 Gene:
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are
monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids
and other lipids. This protein localizes to the endoplasmic reticulum and is known to metabolize as many as 20%
of commonly prescribed drugs. Its substrates include debrisoquine, an adrenergic-blocking drug; sparteine and
propafenone, both anti-arrythmic drugs; and amitryptiline, an anti-depressant. The gene is highly polymorphic in
the population; certain alleles result in the poor metabolizer phenotype, characterized by a decreased ability to
metabolize the enzyme's substrates. The gene is located near two cytochrome P450 pseudogenes on chromosome
22q13.1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
(provided by RefSeq, Jul 2008)

GeneCards Summary for CYP2D6 Gene: 
CYP2D6 (cytochrome P450, family 2, subfamily D, polypeptide 6) is a protein-coding gene. Diseases associated with CYP2D6 include debrisoquine sensitivity, and codeine sensitivity, and among its related super-pathways are Tamoxifen Pathway, Pharmacokinetics and Codeine and Morphine Pathway, Pharmacokinetics. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP2W1.

UniProtKB/Swiss-Prot: CP2D6_HUMAN, P10635
Function: Responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It is
involved in the metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic
antidepressants

Gene Wiki entry for CYP2D6 Gene

PharmGKB "VIP" summary for CYP2D6


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CYP2D6 gene promoter:
         PPAR-gamma1   PPAR-gamma2   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): CYP2D6 promoter sequence
   Search SABiosciences Chromatin IP Primers for CYP2D6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CYP2D6


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q13.2   HGNC cytogenetic band: 22q13.1

CYP2D6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP2D6 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M042522:  view genomic region     (about GC identifiers)

Start:
42,522,501 bp from pter      End:
42,526,908 bp from pter
Size:
4,408 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CP2D6_HUMAN, P10635 (See protein sequence)
Recommended Name: Cytochrome P450 2D6  
Size: 497 amino acids; 55769 Da
Cofactor: Heme group
Subcellular location: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral
membrane protein
4 PDB 3D structures from and Proteopedia for CYP2D6:
2F9Q (3D)        3QM4 (3D)        3TBG (3D)        3TDA (3D)    
Secondary accessions: Q16752 Q2XND6 Q2XND7 Q2XNE0 Q6B012 Q6NXU8
Alternative splicing: 2 isoforms:  P10635-1   P10635-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP2D6: NX_P10635

Explore proteomics data for CYP2D6 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P10635

  • 4/20 DME Specific Peptides for CYP2D6 (P10635) (see all 20)
     VTTSTTL  EAFLPFS  LSSVLKD  NLSSVLK 

    CYP2D6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CYP2D6 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000097.3  NP_001020332.2  

    ENSEMBL proteins: 
     ENSP00000353241   ENSP00000353820   ENSP00000351927   ENSP00000374620  
    Reactome Protein details: P10635
    Human Recombinant Protein Products for CYP2D6: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Novus Biologicals CYP2D6 Protein
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    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for CYP2D6
    Cloud-Clone Corp. Proteins for CYP2D6 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA19438707
    GO:0005783endoplasmic reticulum TAS19438707
    GO:0005789endoplasmic reticulum membrane TAS--

    CYP2D6 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP2D6 
    CYP2 family

    4 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I
     IPR008069 Cyt_P450_E_grp-I_CYP2D-like

    Graphical View of Domain Structure for InterPro Entry P10635

    ProtoNet protein and cluster: P10635

    2 Blocks protein domains:
    IPB002401 E-class P450 group I signature
    IPB008069 CYP2D P450 family signature


    UniProtKB/Swiss-Prot: CP2D6_HUMAN, P10635
    Similarity: Belongs to the cytochrome P450 family


    CYP2D6 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP2D6_HUMAN, P10635
    Function: Responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It is
    involved in the metabolism of drugs such as antiarrhythmics, adrenoceptor antagonists, and tricyclic
    antidepressants
    Catalytic activity: RH + reduced flavoprotein + O(2) = ROH + oxidized flavoprotein + H(2)O
    Induction: By pregnancy

         Enzyme Number (IUBMB): EC 1.14.14.11 2

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity IDA15327587
    GO:0005506iron ion binding IEA--
    GO:0008144drug binding IDA19448135
    GO:0009055electron carrier activity IEA--
    GO:0016491oxidoreductase activity IDA15039299
         
    CYP2D6 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CYP2D6:
     Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for CYP2D6 
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    miRNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CYP2D6 About   (see all 19)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Tamoxifen metabolism
    Tamoxifen metabolism0.68
    Estradiol metabolism0.52
    Tamoxifen Pathway, Pharmacokinetics0.68
    Benzodiazepine Pathway, Pharmacokinetics0.38
    2Codeine and morphine metabolism
    Codeine and morphine metabolism0.89
    Tramadol Pharmacokinetics0.36
    Codeine and Morphine Pathway, Pharmacokinetics0.89
    3Cytochrome P450 - arranged by substrate type
    Cytochrome P450 - arranged by substrate type0.75
    Phase 1 - Functionalization of compounds0.74
    cytochrome P4500.75
    4Biological oxidations
    Biological oxidations0.55
    metapathway biotransformation0.41
    5Acetaminophen metabolism
    Acetaminophen metabolism0.43
    Acetaminophen Pathway, Pharmacokinetics0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    4 EMD Millipore Pathways for CYP2D6
        Estradiol metabolism
    NAD metabolism
    Retinol metabolism
    Acetaminophen metabolism


    4 GeneGo (Thomson Reuters) Pathways for CYP2D6
        Estradiol metabolism
    NAD metabolism
    Retinol metabolism
    Acetaminophen metabolism

    5 BioSystems Pathways for CYP2D6
        cytochrome P450
    Codeine and morphine metabolism
    Tamoxifen metabolism
    metapathway biotransformation
    Fatty Acid Omega Oxidation


    5/8        Reactome Pathways for CYP2D6 (see all 8)
        Cytochrome P450 - arranged by substrate type
    Miscellaneous substrates
    Fatty acids
    Xenobiotics
    Metabolism

    5/19 PharmGKB Pathways for CYP2D6 (see all 19)
        Acetaminophen Pathway, Pharmacokinetics
    Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics
    Benzodiazepine Pathway, Pharmacokinetics
    Celecoxib Pathway, Pharmacokinetics
    Citalopram Pathway, Pharmacokinetics

    3         Kegg Pathways  (Kegg details for CYP2D6):
        Metabolism of xenobiotics by cytochrome P450
    Drug metabolism - cytochrome P450
    Serotonergic synapse


    CYP2D6 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CYP2D6

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/35 Interacting proteins for CYP2D6 (P106353 ENSP000003538204) via UniProtKB, MINT, STRING, and/or I2D (see all 35)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAGEB4O154813I2D: score=1 
    SAT1P216733I2D: score=1 
    CYP2C18ENSP000002859794STRING: ENSP00000285979
    CYP2C19ENSP000003603724STRING: ENSP00000360372
    CYP2C8ENSP000003603174STRING: ENSP00000360317
    About this table

    Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006805xenobiotic metabolic process TAS19438707
    GO:0008202steroid metabolic process IMP18356043
    GO:0009804coumarin metabolic process IDA19438707
    GO:0009820alkaloid metabolic process IDA19651758
    GO:0009822alkaloid catabolic process IDA15039299

    CYP2D6 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CYP2D6 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CYP2D6 (CP2D6)

    10/70 HMDB Compounds for CYP2D6 (see all 70)    About this table
    CompoundSynonyms CAS #PubMed Ids
    10-HETE10-hydroxyeicosa-all-cis-5,8,11,14-tetraenoate (see all 2)167697-52-1--
    11,12,15-THETA11,12,15-Trihydroxyicosatrienoic acid (see all 5)----
    11,12-Epoxyeicosatrienoic acid10-(3-(2-octenyl)oxiranyl)-5,8-Decadienoic acid (see all 15)81276-02-0--
    11,14,15-THETA(5Z,8Z,12E)-11,14,15-Trihydroxyeicosa-5,8,12-trienoic acid (see all 8)----
    11H-14,15-EETA14,15-Ep-11-HETrE (see all 11)219535-29-2--
    11beta-Hydroxytestosterone11beta,17beta-dihydroxyandrost-4-en-3-one 1816-85-9--
    12,13-EpOMEVernolic acid (see all 12)----
    13-HETE13-hydroxy-5Z,8Z,11Z,14Z-eicosatetraenoate (see all 2)151910-72-4--
    14,15-Epoxy-5,8,11-eicosatrienoic acid(5Z,8Z,11Z)-14,15-Epoxyicosa-5.8.11-trienoic acid (see all 11)81276-03-1--
    15(S)-HPETE(5Z,8Z,11Z,13E)-(15S)-15-Hydroperoxyicosa-5,8,11,13-tetraenoate (see all 8)70981-96-3--

    10/305 DrugBank Compounds for CYP2D6 (see all 305)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    TamoxifenICI-46474 (see all 3)10540-29-1enzymesubstrate inhibitor12124303 1500011 15159443 1500055 20425602 19934256 19515014
    AmitriptylineAmitriprolidine (see all 5)50-48-6enzymesubstrate inhibitor11259560 9131945 8968657 18359012 19934256 19515014
    Fluoxetine-- 54910-89-3enzymesubstrate inhibitor18537577 10774624 16910628 8968657 19934256 19515014
    PerphenazineChlorperphenazine (see all 8)58-39-9enzymesubstrate inhibitor9333110 16910628 10688273 19934256 9616188 8689810
    Risperidonerisperdone (see all 3)106266-06-2enzymesubstrate inhibitor19902987 19817501 10048600 11560868 19934256 19910717
    Chlorpromazine-- 50-53-3enzymesubstrate inhibitor16910628 10688273 19934256 10901285 11996015
    DextromethorphanD-Methorphan (see all 20)125-71-3enzymesubstrate inhibitor19817501 12401364 11602530 19934256 19515014
    Doxepin-- 1668-19-5enzymesubstrate inhibitor15168101 11037801 12360109 19934256 15520506
    Nortriptyline-- 72-69-5enzymesubstrate inhibitor10354960 18359012 19934256 9193876 19515014
    SertralineSertralina [Spanish] (see all 3)79617-96-2enzymesubstrate inhibitor12143142 16910628 15547048 8968657 19934256

    10/156 Novoseek inferred chemical compound relationships for CYP2D6 gene (see all 156)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    debrisoquine 96.9 338 10752638 (5), 11723233 (5), 9316857 (4), 1978565 (3) (see all 99)
    bufuralol 93.4 56 15183128 (3), 16563352 (3), 11266079 (3), 12167561 (2) (see all 36)
    sparteine 91.2 56 8351162 (3), 1531950 (2), 10634134 (2), 11549206 (2) (see all 41)
    quinidine 88.3 116 10702886 (6), 7575645 (5), 7593709 (5), 8100167 (3) (see all 64)
    dextrorphan 84.7 40 18543297 (5), 7593709 (3), 10942192 (3), 10774635 (2) (see all 15)
    3-methoxymorphinan 83.7 8 8873685 (2), 10942192 (2), 7826826 (1), 10774635 (1)
    furafylline 81.5 1 9431831 (1)
    mephenytoin 81.3 28 10424320 (2), 8737964 (2), 10774635 (2), 18979093 (1) (see all 19)
    bunitrolol 80.8 10 7663534 (3), 15618721 (1), 7951142 (1), 9914647 (1) (see all 5)
    1'-hydroxybufuralol 78 1 12167561 (1)

    10/49 PharmGKB related drug/compound annotations for CYP2D6 gene (see all 49)    About this table
    Drug/compound PharmGKB Annotation
    acetaminophen
    amitriptyline
    aripiprazole
    atomoxetine
    carvedilol
    cevimeline
    citalopram
    clomipramine  CA  
    clozapine
    codeine

    Search CenterWatch for drugs/clinical trials and news about CYP2D6 / CP2D6

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CYP2D6 gene (2 alternative transcripts): 
    NM_000106.5  NM_001025161.2  

    Unigene Clusters for CYP2D6:

    Cytochrome P450, family 2, subfamily D, polypeptide 6
    Hs.333497  [show with all ESTs], Hs.648256  [show with all ESTs]
    Unigene Representative Sequences: AY220845, AB209492
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000360124(uc010gyu.3) ENST00000360608(uc003bce.3 uc003bcf.3)
    ENST00000488442 ENST00000359033 ENST00000389970
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Additional mRNA sequence: 

    AB209492.1 AK308211.1 AK309600.1 AY663390.1 BC066877.1 BC067432.1 BC075023.2 BC075024.2 
    BC106757.1 BC106758.1 BC126857.1 BC126858.1 CR456430.1 M20403.1 M24499.1 X08006.1 
    X16865.1 

    19 DOTS entries:

    DT.456039  DT.75148866  DT.101983084  DT.100861542  DT.91734821  DT.120667070  DT.120667088  DT.95345407 
    DT.99937608  DT.97806204  DT.100797188  DT.120667041  DT.91742565  DT.100797187  DT.40200615  DT.100797190 
    DT.100797191  DT.120667093  DT.91690659 

    24/107 AceView cDNA sequences (see all 107):

    NM_000106 AV645915 CB137789 BC067432 BC066877 CB144729 AI581683 CB122244 
    CB134922 CR456430 X08006 CK130221 CF271947 AV645462 CF271949 BV206625 
    BX096000 CB148831 BX432878 CD607605 AV698268 CF271948 BM048293 BG743095 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for CYP2D6 (see all 13)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a ·
    SP1:                                                                                                                    -                                       
    SP2:                                                                                                                    -                 -                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                      -                 -   
    SP5:                                                              -                                                                                             

    ExUns: 17b ^ 18 ^ 19 ^ 20a · 20b ^ 21
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for CYP2D6

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CYP2D6 expression in normal human tissues (normalized intensities)      CYP2D6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CYP2D6 Expression
    About this image


    CYP2D6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Liver (Hepatobiliary System)
             Mature Hepatocytes Liver Lobule
     
     Blood Brain Barrier (Nervous System)
             Endothelial Cells Blood Brain Barrier
     
     Endothelium (Cardiovascular System)
             Endothelial Cells Blood Brain Barrier
     
     Brain (Nervous System)
             Endothelial Cells Blood Brain Barrier
     
     Amnion (Extraembryonic Tissues)
             Amniotic Epithelial Cells Amniotic Membrane

    See CYP2D6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CYP2D6

    SOURCE GeneReport for Unigene clusters: Hs.333497 Hs.648256
        SABiosciences Expression via Pathway-Focused PCR Arrays including CYP2D6 (see all 6): 
              Nephrotoxicity in human mouse rat
              Cancer Drug Resistance in human mouse rat
              Drug Metabolism: Phase I Enzymes in human mouse rat
              Cellular Stress Responses in human mouse rat
              Molecular Toxicology PathwayFinder 384HT in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for CYP2D6 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp2d225
    Cyp2d101
    cytochrome P450, family 2, subfamily d, polypeptide 22 less5
    cytochrome P450, family 2, subfamily d, polypeptide 10 less1
    77.3(n)1
    70.76(a)1
      15 (38.57 cM)5
    131011  NM_010005.31  NP_034135.21 
     823705285 
    chicken
    (Gallus gallus)
    Aves CYP2D66
    cytochrome P450, family 2, subfamily D, polypeptid...
    54(a)
    1 ↔ 1
    1(49264035-49274937)
    lizard
    (Anolis carolinensis)
    Reptilia CYP2D66
    Uncharacterized protein
    48(a)
    1 ↔ 1
    5(27228365-27244663)
    zebrafish
    (Danio rerio)
    Actinopterygii cyp2aa126
    cyp2x96
    (see all 17)
    cytochrome P450, family 2, subfamily AA, polypepti...
    cytochrome P450, family 2, subfamily X, polypeptid...
    (see all 17)
    40(a)
    39(a)
    (see all 17)
    possible ortholog
    possible ortholog
    (see all 17)
    23(43010133-43024136)
    25(17753495-17760328)


    ENSEMBL Gene Tree for CYP2D6 (if available)
    TreeFam Gene Tree for CYP2D6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CYP2D6 gene
    CYP2W12  CYP2C82  CYP2A62  CYP2F12  CYP2A72  CYP2B62  CYP2C192  CYP2R12  
    CYP2J22  CYP2U12  CYP2S12  CYP2E12  CYP2C92  CYP2C182  CYP2A132  
    18/32 SIMAP similar genes for CYP2D6 using alignment to 39 protein entries:     CP2D6_HUMAN (see all proteins) (see all similar genes):
    CYP2D7P1    CYP2G1P    CYP2R1    CYP2J2    CYP2U1    CYP2B6
    CYP2A6    CYP2A13    CYP2A7    CYP2C9    CYP2E1    CYP 2C
    CYP2B    CYP2C19    CYP2B7    CYP2A6V2    CYP2C8    CYP1A1

    CYP2D6 for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for CYP2D6
    PGOHUM00000259332 PGOHUM00000237892


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: CP2D6_HUMAN, P10635
    Polymorphism: Genetic variations in CYP2D6 are the cause of poor drug metabolism CYP2D6-related [MIM:608902]. The
    CYP2D6 gene is highly polymorphic. CYP2D6 activity ranges widely within a population comprising ultrarapid (UM),
    extensive (EM), intermediate (IM) and poor (PM) metabolizer phenotypes. UM and PM are those most at risk for
    treatment failure or dose-dependent drug toxicity, respectively. Of the Caucasian populations of Europe and North
    America, 5%-10% are of the PM phenotype and are unable to metabolize the antihypersensitive drug debrisoquine and
    numerous other drugs
    Polymorphism: Allele CYP2D6*7 was also known as CYP2D6E, allele CYP2D6*9 as CYP2D6C, allele CYP2D6*10 as CYP2D6J,
    allele CYP2D6*17 as CYP2D6Z
    Polymorphism: Isozymes CYP2D6.45 (Lys-155, Cys-296 and Thr-486) and CYP2D6.46 (His-26, Lys-155, Cys-296 and
    Thr-486) are functional


    10/448 SNPs in CYP2D6 are shown (see all 448)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs50308651,2
    C,Fpathogenic142525035(+) CCCACA/C/TGGAGT 3 G * stg1 int14NS NA 102
    rs10658521,2,4
    C,Fpathogenic142526694(-) GCTACC/TCACCA 4 P S mis1 ese313Minor allele frequency- T:0.21NS WA NA EA EU 5579
    rs11358401,2,4
    C,Funtested142522613(-) GGTGAC/GCCCAT 4 T S mis1 ese313Minor allele frequency- G:0.39NS NA WA CSA EA EU 5627
    rs1410094911,2
    Cuntested142523633(+) GGACAC/GGGCCT 4 P R mis11Minor allele frequency- T:0.00NA 4534
    rs2676082891,2
    Cuntested142525733(+) ACCGCC/TGCTTG 2 -- int10--------
    rs2676082821,2
    Cuntested142525946(+) AAGCCA/GGGATC 2 -- int10--------
    rs2676082751,2
    Cuntested142526051(+) ATCCT-/GGGGCG 2 -- int10--------
    VAR_0456804
    ----see VAR_0456802 A G mis40--------
    VAR_0083684
    ----see VAR_0083682 R C mis40--------
    VAR_0083744
    ----see VAR_0083742 E K mis40--------

    HapMap Linkage Disequilibrium report for CYP2D6 (42522501 - 42526908 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/17 variations for CYP2D6 (see all 17):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2724275CNV Deletion23290073
    dgv780e201CNV Deletion23290073
    nsv436350CNV Deletion17901297
    esv2171396CNV Deletion18987734
    nsv508737CNV Insertion20534489
    nsv3642CNV Insertion18451855
    nsv3641CNV Loss18451855
    nsv834210CNV Loss17160897
    nsv498989CNV Loss21111241
    nsv829243CNV Loss20364138


    Human Gene Mutation Database (HGMD): CYP2D6

    Locus Specific Mutation Databases (LSDB): CYP2D6
    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for CYP2D6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 124030   
    OMIM disorders: 608902  
    20/137 diseases for CYP2D6 (see all 137):    About MalaCards
    debrisoquine sensitivity    codeine sensitivity    neuroleptic malignant syndrome    autoimmune hepatitis
    serotonin syndrome    cytochrome p450    multiple chemical sensitivity    hypersomnia
    tardive dyskinesia    systolic heart failure    hepatitis d    drug-induced hepatitis
    bladder cancer susceptibility    pain agnosia    schizoaffective disorder    gastroparesis
    addison's disease    multiple system atrophy    substance abuse    spondylitis

    10 diseases from the University of Copenhagen DISEASES database for CYP2D6:
    Autoimmune hepatitis     Schizophrenia     Breast cancer     Neuroleptic malignant syndrome
    Parkinson's disease     Pain agnosia     Liver disease     Lung cancer
    Schizoaffective disorder     Hepatitis C

    CYP2D6 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/71 Novoseek inferred disease relationships for CYP2D6 gene (see all 71)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hepatitis autoimmune 71.3 35 16037945 (2), 9719237 (2), 15747502 (2), 10540193 (2) (see all 23)
    neuroleptic malignant syndrome 47 13 9323326 (4), 9892857 (1), 11204351 (1), 16048458 (1) (see all 6)
    parkinson disease 44 57 9189044 (4), 8627546 (2), 18300942 (2), 20364044 (2) (see all 33)
    genetic susceptibility 42 4 18300942 (1), 7581482 (1), 20225176 (1), 8035747 (1)
    hepatitis c chronic 35.6 11 9672171 (2), 10772926 (2), 8905121 (1), 9328334 (1) (see all 9)
    cancer recurrence 34.8 5 20439629 (2), 19690182 (1), 19244106 (1)
    schizophrenia 31.3 57 18034624 (5), 16478753 (4), 18520596 (3), 11702057 (3) (see all 22)
    lewy body disease 30.5 5 9316701 (1), 10534269 (1), 16337409 (1), 10071712 (1)
    breast cancer 26.4 59 20439629 (4), 18445827 (3), 18407954 (3), 18794105 (3) (see all 33)
    parkinsonism 25.6 7 9286632 (1), 8937349 (1), 9109653 (1), 8723226 (1) (see all 5)

    Genatlas disease: CYP2D6
    debrisoquine sensitivity (poor metabolizer,CYP2D6 mutant) including neuroleptic malignant syndrome,putative
    susceptibility gene for leukemia

    Genetic Association Database (GAD): CYP2D6
    Human Genome Epidemiology (HuGE) Navigator: CYP2D6 (571 documents)

    Export disorders for CYP2D6 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CYP2D6 gene, integrated from 9 sources (see all 1697):
    (articles sorted by number of sources associating them with CYP2D6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Impact of CYP2D6 genotype on steady-state serum conce ntrations of risperidone and 9-hydroxyrisperidone in patients using long-acting injectable risperidone. (PubMed id 19910717)1, 4, 7, 9 Hendset M....Hermann M. (2009)
    2. A novel mutant variant of the CYP2D6 gene (CYP2D6*17) common in a black African population: association with diminished debrisoquine hydroxylase activity. (PubMed id 8971426)1, 2, 4, 9 Masimirembwa C....Ingelman-Sundberg M. (1996)
    3. A missense mutation in exon 6 of the CYP2D6 gene leading to a histidine 324 to proline exchange is associated with the poor metabolizer phenotype of sparteine. (PubMed id 7845481)1, 2, 4, 9 Evert B.... Eichelbaum M. (1994)
    4. Influence of CYP2D6 genotype on metoprolol plasma concentration and beta-adrenergic inhibition during long-term treatment: a comparison with bisoprolol. (PubMed id 16220080)1, 4, 7 Nozawa T....Inoue H. (2005)
    5. Contributions of CYP2D6, CYP2C9 and CYP2C19 to the biotransformation of E- and Z-doxepin in healthy volunteers. (PubMed id 12360109)1, 4, 7 Kirchheiner J....Brockmoller J. (2002)
    6. Polymorphism of human cytochrome P450 2D6 and its cli nical significance: part II. (PubMed id 19902987)1, 7, 9 Zhou S.F. (2009)
    7. Cytochrome P450 2D6 and homeobox 13/interleukin-17B receptor: combining inherited and tumor gene markers for prediction of tamoxifen resistance. (PubMed id 18794098)1, 4, 9 Goetz M.P....Ingle J.N. (2008)
    8. Allelic distributions of CYP2D6 gene copy number variation in the Eastern Han Chinese population. (PubMed id 17241532)1, 4, 9 Sheng H.H....Xiao H.S. (2007)
    9. A study of genetic (CYP2D6 and ABCB1) and environmental (drug inhibitors and inducers) variables that may influence plasma risperidone levels. (PubMed id 17541883)1, 4, 9 Leon J....Diaz F.J. (2007)
    10. The impact of pharmacogenomics on postoperative nausea and vomiting: do CYP2D6 allele copy number and polymorphisms affect the success or failure of ondansetron prophylaxis? (PubMed id 15731591)1, 4, 9 Candiotti K.A....Andrews D. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1565 HGNC: 2625 AceView: CYP2D6andCYP2D7P1andLOC440832 Ensembl:ENSG00000100197 euGenes: HUgn1565
    ECgene: CYP2D6 Kegg: 1565 H-InvDB: CYP2D6

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CYP2D6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CYP2D6 Genetics and Cytogenetics in Oncology and Haematology
    Cytochrome P450 Allele Nomenclature Committeehttp://www.cypalleles.ki.se/cyp2d6.htm
    Wikipedia http://en.wikipedia.org/wiki/CYP2D6

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CYP2D6 gene:
    Search GeneIP for patents involving CYP2D6

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP2D6
     Browse SwitchGear 3'UTR luciferase reporter plasmids for CYP2D6
     SwitchGear Promoter luciferase reporter plasmids for CYP2D6
     ThermoFisher Antibodies for CYP2D6
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CYP2D6
     inGenious Targeting Laboratory - Custom generated mouse model solutions for CYP2D6
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CYP2D6
    Customized:
     lentivirus for stable overexpression of CYP2D6
     lentivirus expression plasmids for stable overexpression of CYP2D6
     adenovirus for overexpression of CYP2D6
     LSBio Antibodies in human, mouse, rat for CYP2D6
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    transforming growth factor, beta 1
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